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CASE REPORT article
Front. Med.
Sec. Hepatobiliary Diseases
Volume 11 - 2024 |
doi: 10.3389/fmed.2024.1400475
This article is part of the Research Topic Case Reports in Hepatobiliary Diseases View all 13 articles
Case Report: ZFYVE19 Gene Mutation is Associated with Familial Cholestasis
Provisionally accepted- Liver Research Center, First Affiliated Hospital of Fujian Medical University, Fuzhou, China
The etiology of cholestatic liver disease is complex, with clinical manifestations being nonspecific, and biochemical abnormalities mainly characterized by elevated alkaline phosphatase (ALP) and glutamyl transpeptidase (GGT). Due to the lack of specific symptoms and diverse causes, the diagnosis poses certain challenges. Here, we present a case of liver cirrhosis with predominant cholestatic features of unknown etiology. Despite multiple comprehensive routine etiological screenings and liver biopsies, the diagnosis remained unclear. Subsequent whole exome sequencing revealed the diagnosis of liver cirrhosis caused by familial cholestasis related to a mutation in the ZFYVE19 gene. Through this case report analysis, we aim to broaden the diagnostic approach for cholestatic liver disease of unknown etiology, identify the cause accurately, and intervene promptly.
Keywords: Cholestasis, ZFYVE19, Gene detection, Liver Cirrhosis, hereditary
Received: 13 Mar 2024; Accepted: 06 Dec 2024.
Copyright: © 2024 Xue, Huang and Zheng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Ling-Ling Huang, Liver Research Center, First Affiliated Hospital of Fujian Medical University, Fuzhou, China
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